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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAZ1B Gene

protein-coding   GIFtS: 54
GCID: GC07M072854

bromodomain adjacent to zinc finger domain, 1B


(Previous symbols: WBSCR9, WBSCR10)
 Explore 5 diseases affiliated with
BAZ1B via our new
 Human Malady Compendium 
Biological research products
for BAZ1B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Bromodomain Adjacent To Zinc Finger Domain, 1B1 2     HWALp21
WBSCR91 2 3 5     EC 2.7.10.23 8
WSTF1 2 3 5     Transcription Factor WSTF2
WBSCR101 2 3     Tyrosine-Protein Kinase BAZ1B2
Williams Syndrome Transcription Factor2 3     WBSC103
Williams-Beuren Syndrome Chromosomal Region 10 Protein2 3     Bromodomain Adjacent To Zinc Finger Domain Protein 1B3
Williams-Beuren Syndrome Chromosomal Region 9 Protein2 3     

External Ids:    HGNC: 9611   Entrez Gene: 90312   Ensembl: ENSG000000099547   OMIM: 6056815   UniProtKB: Q9UIG03   

Export aliases for BAZ1B gene to outside databases

Previous GC identifers: GC07M071495 GC07M072253 GC07M072266 GC07M072299 GC07M072492 GC07M068737


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAZ1B:
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of
proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren
syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
Function: Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a
transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph).
H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair
responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes
nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates
the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the
histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA
replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA
replication. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a
chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound
VDR-mediated transrepression of the CYP27B1 gene. In the WINAC complex, plays an essential role by targeting the
complex to acetylated histones, an essential step for VDR-promoter association

Gene Wiki entry for BAZ1B


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAZ1B gene promoter:
         Max1   AP-1   AP-2gamma   Egr-2   HEN1   AP-2beta   AP-2alpha   AP-2alphaA   Hlf   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BAZ1B promoter sequence
   Search SABiosciences Chromatin IP Primers for BAZ1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAZ1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

BAZ1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAZ1B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M072854:  view genomic region     (about GC identifiers)

Start:
72,854,728 bp from pter      End:
72,936,615 bp from pter
Size:
81,888 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,187,800-72,269,687     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0 (See protein sequence)
Recommended Name: Tyrosine-protein kinase BAZ1B  
Size: 1483 amino acids; 170903 Da
Cofactor: Manganese
Subunit: Interacts with MYO1C (By similarity). Interacts with CDT1. Interacts with SMARCA5/SNF2H; the interaction is
direct and forms the WICH complex. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF,
SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4,
SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with
VDR; in a ligand-dependent manner. Interacts with PCNA; the interaction is direct
Subcellular location: Nucleus. Note=Accumulates in pericentromeric heterochromatin during replication. Targeted to
replication foci throughout S phase via its association with PCNA
Developmental stage: Expressed at equal levels in 19-23 weeks old fetal tissues
Sequence caution: Sequence=AAC97879.1; Type=Frameshift; Positions=1031, 1042, 1422; Sequence=AAD04720.1; Type=Erroneous
gene model prediction; Sequence=AAH65029.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA89210.1; Type=Frameshift; Positions=1478;
1 PDB 3D structure from and Proteopedia for BAZ1B:
1F62 (3D)    
Secondary accessions: B9EGK3 D3DXE9 O95039 O95247 O95277 Q6P1K4 Q86UJ6
Alternative splicing: 2 isoforms:  Q9UIG0-1   Q9UIG0-2   

Explore the universe of human proteins at neXtProt for BAZ1B: NX_Q9UIG0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UIG0

  • 4/6 DME Specific Peptides for BAZ1B (Q9UIG0) (see all 6)
     SELVRLCLR  APWVVEDELVKK  ALCHRILMTYSV  PKFLPHKYDVKL 

    BAZ1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115784.1  
    ENSEMBL proteins: 
     ENSP00000342434   ENSP00000385442  

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    Uscn Proteins for BAZ1B

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793condensed chromosome IEA--
    GO:0005634nucleus ----
    GO:0005721centromeric heterochromatin IEA--
    GO:0016585chromatin remodeling complex ----
    GO:0043596colocalizes with nuclear replication fork IDA15543136


    BAZ1B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BAZ1B for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry Q9UIG0

    ProtoNet protein and cluster: Q9UIG0

    3 Blocks protein families:
    IPB001487 Bromodomain signature
    IPB001965 Zn-finger-like
    IPB004022 DDT domain


    UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
    Domain: The N-terminal part (1-345), including the WAC domain and the C motif, mediates the tyrosine-protein kinase
    activity
    Domain: The bromo domain mediates the specific interaction with acetylated histones
    Similarity: Belongs to the WAL family. BAZ1B subfamily
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 DDT domain
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 WAC domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
    Function: Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a
    transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph).
    H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair
    responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes
    nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates
    the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the
    histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA
    replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA
    replication. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a
    chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound
    VDR-mediated transrepression of the CYP27B1 gene. In the WINAC complex, plays an essential role by targeting the
    complex to acetylated histones, an essential step for VDR-promoter association
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

    Enzyme Number (IUBMB): EC 2.7.10.21 2

    miRNA
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    hsa-miR-520d-5p hsa-miR-300 hsa-miR-10b hsa-miR-3616-5p hsa-miR-4299 hsa-miR-374a* hsa-miR-548g hsa-miR-654-5p
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    Inhib. RNA
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    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA16252006
    GO:0004713protein tyrosine kinase activity IDA19092802
    GO:0004715non-membrane spanning protein tyrosine kinase activity IEA--
    GO:0005515protein binding IPI19776015
    GO:0005524ATP binding IEA--


    BAZ1B for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Baz1btm1Ska for BAZ1B
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Baz1b):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     embryogenesis  growth/size  homeostasis/metabolism  immune system  mortality/aging 
     muscle  reproductive system  skeleton 

    BAZ1B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BAZ1B
        Chromatin Regulation / Acetylation



    BAZ1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAZ1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/84 Interacting proteins for BAZ1B (Q9UIG01, 2, 3 ENSP000003424344) via UniProtKB, MINT, STRING, and/or I2D (see all 84)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003007heart morphogenesis ISS--
    GO:0006302double-strand break repair ISS--
    GO:0006333chromatin assembly or disassembly ----
    GO:0006337nucleosome disassembly IDA--
    GO:0006338chromatin remodeling ----


    BAZ1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAZ1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAZ1B
    1 Novoseek chemical compound relationship for BAZ1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin d 41.9 4 12837248 (2), 19776015 (1), 15225768 (1)

    Search CenterWatch for drugs/clinical trials and news about BAZ1B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAZ1B gene (2 alternative transcripts): 
    NM_032408.3  NM_023005.2  

    Unigene Cluster for BAZ1B:

    Bromodomain adjacent to zinc finger domain, 1B
    Hs.743372  [show with all ESTs]
    Unigene Representative Sequence: NM_032408
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339594(uc003tyc.3) ENST00000404251 ENST00000466844

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    hsa-miR-520d-5p hsa-miR-300 hsa-miR-10b hsa-miR-3616-5p hsa-miR-4299 hsa-miR-374a* hsa-miR-548g hsa-miR-654-5p
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    Additional cDNA sequence: 

    AF072810.1 AF084479.1 AK123564.1 BC041561.1 BC050599.1 BC065029.1 BC080544.1 BC136520.1 

    11 DOTS entries:

    DT.95212824  DT.97847150  DT.95082862  DT.95202836  DT.418510  DT.101961100  DT.95220343  DT.121109456 
    DT.92451680  DT.95220365  DT.95345719 

    24/376 AceView cDNA sequences (see all 376):

    W60294 AA076953 AA912119 CR623422 BU615447 AW087608 AI220852 AA485131 
    AI498634 AI092789 AA872405 BX093970 BM741414 AA971272 BU624535 BU675309 
    BU632531 BQ688396 BE858129 BG281920 AI538153 AI804736 BQ231337 AI080642 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAZ1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACTTGTGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BAZ1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAZ1B

    SOURCE GeneReport for Unigene cluster: Hs.743372

    UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
    Tissue specificity: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle
    and ovary

        SABiosciences Expression via Pathway-Focused PCR Arrays including BAZ1B: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAZ1B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BAZ1B gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BAZ1B1 bromodomain adjacent to zinc finger domain, 1B 75.73(n)
    81.34(a)
      427819  XM_001233716.2  XP_001233717.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    84(a)
    1 ↔ 1
    AAWZ02038263(4907-12036)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982692 Williams syndrome transcription factor 75.49(n)    AF412333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195942 Transcribed sequence with weak similarity to protein more 77.22(n)    AL915593.1 


    ENSEMBL Gene Tree for BAZ1B (if available)
    TreeFam Gene Tree for BAZ1B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BAZ1B gene
    BAZ1A2  BPTF2  BAZ2A2  BAZ2B2  CECR22  KAT2A2  KAT2B2  

    BAZ1B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1373 NCBI SNPs in BAZ1B are shown (see all 1373    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs731349181,2
    C,--72187480(+) GTGAGA/GCTGTC 1 -- ds50013Minor allele frequency- G:0.03NA WA 240
    rs794666701,2
    C,--72187481(+) TGAGAC/TTGTCC 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs715567111,2
    C,--72187621(+) TTAGAC/TGGAGA 1 -- ds50012Minor allele frequency- T:0.08NA 122
    rs773748841,2
    --72187637(+) CCAGGA/GGAGGC 1 -- ds50010--------
    rs7992211,2
    C,F,H,--72187770(-) TGGGTG/TGGGGT 1 -- ds50017Minor allele frequency- T:0.02MN NS NA 1074
    rs1908060951,2
    C--72187900(+) GAAGAA/CAATAA 1 -- ut310--------
    rs7992201,2
    C,F,H,--72188092(-) GGATTG/TCTCCA 1 -- ut31 ese310Minor allele frequency- T:0.01MN NS NA WA 1364
    rs7992191,2
    F,--72188314(+) GGAAAG/CAAGAC 1 -- ut31 ese3 trp35Minor allele frequency- C:0.01MN NA EA 240
    rs16292351,2
    C--72188642(-) CTTTAG/CCACAT 1 -- ut313Minor allele frequency- C:0.00MN NA 188
    rs748030131,2
    C,F,--72190289(+) GGACAG/AGGCAG 1 -- int11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for BAZ1B (72854728 - 72936615 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BAZ1B
         1 CNV: 3685

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BAZ1B
    DNA2.0 Custom Variant and Variant Library Synthesis for BAZ1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BAZ1B for disorders           About GeneDecksing

    OMIM gene information: 605681    OMIM disorders: --

    UniProtKB/Swiss-Prot: BAZ1B_HUMAN, Q9UIG0
  • Note=BAZ1B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous
  • deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between
    highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BAZ1B may be the cause
    of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

    5 diseases for BAZ1B:    About MalaCards
    williams-beuren syndrome    williams syndrome    supravalvular aortic stenosis    coronary heart disease
    hypertriglyceridemia

    1 disease from the University of Copenhagen DISEASES database for BAZ1B:
    Williams-Beuren syndrome

    1 Novoseek disease relationship for BAZ1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 92.5 19 19470456 (3), 9858827 (2), 12837248 (2), 9828126 (1) (see all 12)

    Human Genome Epidemiology (HuGE) Navigator: BAZ1B (6 documents)

    Export disorders for BAZ1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BAZ1B gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with BAZ1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human gene, WSTF, is deleted in Williams Syndrome. (PubMed id 9828126)1, 2, 3, 9 Lu X.... Keating M.T. (1998)
    2. Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. (PubMed id 9858827)1, 2, 3, 9 Peoples R.J.... Francke U. (1998)
    3. The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription. (PubMed id 16603771)1, 2, 9 Cavellan E....Farrants A.K. (2006)
    4. The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. (PubMed id 15543136)1, 2, 9 Poot R.A....Varga-Weisz P.D. (2004)
    5. WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity. (PubMed id 19092802)1, 2 Xiao A.... Allis C.D. (2009)
    6. Identification of novel human Cdt1-binding proteins by a proteomics approach: proteolytic regulation by APC/CCdh1. (PubMed id 18162579)1, 2 Sugimoto N.... Fujita M. (2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Ligand-induced transrepression by VDR through association of WSTF with acetylated histones. (PubMed id 16252006)1, 2 Fujiki R.... Kato S. (2005)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    10. WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. (PubMed id 11980720)1, 2 Bozhenok L.... Varga-Weisz P. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9031 HGNC: 961 AceView: BAZ1B Ensembl:ENSG00000009954 euGenes: HUgn9031
    ECgene: BAZ1B H-InvDB: BAZ1B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BAZ1B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BAZ1B gene:
    Search GeneIP for patents involving BAZ1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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